A curated catalogue of human genomic structural variation




Variant Details

Variant: esv12643



Internal ID11376562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60002541..60027903hg38UCSC Ensembl
Innerchr17:58079902..58105264hg19UCSC Ensembl
Innerchr17:55434684..55460046hg18UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3825363
hg1925363
hg1825363
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv28791
Supporting Variantsessv81617, essv34761, essv46044, essv35873, essv38252, essv72629, essv83943, essv47049, essv73719, essv65768, essv57479, essv50498, essv53814, essv41507, essv32652, essv67689, essv54518, essv58312, essv60157
SamplesNA18502, NA18861, NA18508, NA19190, NA12156, NA11993, NA18907, NA19114, NA19099, NA19257, NA19225, NA18523, NA18858, NA19108, NA19147, NA18517, NA19240, NA18505, NA19129
Known GenesTBC1D3P1-DHX40P1
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv12643
Frequency
Sample Size40
Observed Gain18
Observed Loss1
Observed Complex0
Frequencyn/a


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